Mental Retardation

Data on mental retardation detailed by researchers at Vrije University Amsterdam

Published in Mental Health Law Weekly, December 22nd, 2007

"Creatine transporter deficiency is an X,linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations in the SLC6A8 gene have been described," investigators in Netherlands report.

"We have developed a diagnostic assay to test creatine uptake in fibroblasts. Additionally, we expanded the assay to characterize novel SLC6A8 missense variants. A total of 13 variants were introduced in the SLC6A8 cDNA by site-directed mutagenesis. All variants were transiently transfected in SLC6A8-deficient fibroblasts and tested for restoration of creatine uptake in deficient primary fibroblasts. Thus, we proved that nine variants...

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Source: Mental Health Law Weekly (2007-12-22)

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